Mutagenetix > Incidental Mutation

Incidental Mutation 'R7040:Nme8'

547011

Institutional Source

Beutler Lab

Gene Symbol

Nme8

Ensembl Gene

ENSMUSG00000041138

Gene Name

NME/NM23 family member 8

Synonyms

Sptrx-2, 1700056P15Rik, Txndc3

MMRRC Submission

045013-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R7040 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19645078-19697794 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19694328 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 87 (L87H)

Ref Sequence

ENSEMBL: ENSMUSP00000089358 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039340] [ENSMUST00000091763]

AlphaFold

Q715T0

Predicted Effect

probably damaging
Transcript: ENSMUST00000039340
AA Change: L87H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047052
Gene: ENSMUSG00000041138
AA Change: L87H

Domain	Start	End	E-Value	Type
Pfam:Thioredoxin	11	112	3.7e-12	PFAM
Pfam:NDK	155	283	2.3e-14	PFAM
NDK	312	452	3.8e-28	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000091763
AA Change: L87H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000089358
Gene: ENSMUSG00000041138
AA Change: L87H

Domain	Start	End	E-Value	Type
Pfam:Thioredoxin	11	112	6.9e-12	PFAM
Pfam:NDK	155	284	1.1e-13	PFAM
NDK	312	449	2.75e-25	SMART
NDK	450	586	1.45e-33	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with an N-terminal thioredoxin domain and three C-terminal nucleoside diphosphate kinase (NDK) domains, but the NDK domains are thought to be catalytically inactive. The sea urchin ortholog of this gene encodes a component of sperm outer dynein arms, and the protein is implicated in ciliary function. Mutations in this gene are implicated in primary ciliary dyskinesia type 6.[provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygous mutant displays normal reproductive system phenotype [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	G	7: 128,236,725	L232P	possibly damaging	Het
Acaa1a	T	C	9: 119,349,038	V312A	probably damaging	Het
Bmp2	A	G	2: 133,561,684	D385G	probably damaging	Het
C1qtnf9	T	C	14: 60,779,792	V257A	probably damaging	Het
Cd3d	G	A	9: 44,985,693	V122I	probably damaging	Het
Cdc37	T	C	9: 21,142,223	E199G	probably damaging	Het
Crb2	T	A	2: 37,787,684	D326E	probably benign	Het
Cyp2c29	A	C	19: 39,330,337	K420N	possibly damaging	Het
Cyp2g1	A	C	7: 26,820,759	D472A	probably damaging	Het
Dab2	A	C	15: 6,422,251	H116P	probably damaging	Het
Dnah7b	G	C	1: 46,236,809	E2619Q	probably benign	Het
Dsg4	A	T	18: 20,451,852	M208L	probably benign	Het
Eif4enif1	T	G	11: 3,234,040	V521G	probably benign	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fpr-rs6	A	G	17: 20,182,934	M55T	probably damaging	Het
Grhpr	A	G	4: 44,985,362	S101G	probably damaging	Het
Kif15	T	A	9: 123,011,614	D33E	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Lama4	A	G	10: 39,060,162	Q611R	possibly damaging	Het
Lrrc47	T	A	4: 154,020,452	*123R	probably null	Het
Map4k3	A	C	17: 80,680,915	V36G	probably damaging	Het
Mme	T	A	3: 63,368,923	I707N	probably damaging	Het
Muc2	A	G	7: 141,751,457	E166G	unknown	Het
Mucl1	T	A	15: 103,753,578	T108S	possibly damaging	Het
Myo1h	A	T	5: 114,359,744	D53V	possibly damaging	Het
Naa15	T	A	3: 51,472,784	L811Q	possibly damaging	Het
Nalcn	T	C	14: 123,287,855	T1487A	probably benign	Het
Nr2e1	A	G	10: 42,568,378	V245A	probably damaging	Het
Nt5c2	A	T	19: 46,893,535	F291Y	possibly damaging	Het
Olfr1337	T	C	4: 118,781,986	M200V	probably benign	Het
Olfr1508	T	C	14: 52,463,475	D178G	possibly damaging	Het
Olfr556	A	T	7: 102,670,730	Q270L	probably benign	Het
Olfr668	A	T	7: 104,925,510	C85S	probably benign	Het
Ooep	T	C	9: 78,378,401	N43S	possibly damaging	Het
Ovch2	A	T	7: 107,796,565	I82N	probably damaging	Het
Palb2	A	T	7: 122,114,399	M524K	possibly damaging	Het
Patj	T	C	4: 98,441,080	S524P	probably benign	Het
Patl1	T	A	19: 11,929,954	Y401N	possibly damaging	Het
Pcdhb20	A	T	18: 37,504,717	T99S	probably benign	Het
Plcb4	G	A	2: 135,932,262	A155T	probably benign	Het
Rpap3	A	G	15: 97,679,112	V585A	possibly damaging	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spen	T	A	4: 141,494,382	T302S	unknown	Het
Tenm4	G	A	7: 96,553,496	R106H	probably benign	Het
Ube2o	T	C	11: 116,541,860	E760G	probably benign	Het
Uimc1	T	A	13: 55,075,454		probably null	Het
Usp16	C	T	16: 87,480,929	A689V	probably damaging	Het
Vmn2r60	G	A	7: 42,142,242	A530T	probably benign	Het
Vps8	T	A	16: 21,575,022	M1185K	probably damaging	Het
Vwa8	T	C	14: 78,912,205	S136P	probably damaging	Het
Ythdc2	A	G	18: 44,834,462	N175S	probably benign	Het
Zfp160	A	T	17: 21,026,532	H448L	probably damaging	Het
Zfp90	T	A	8: 106,425,009	C451*	probably null	Het
Zfp945	A	G	17: 22,852,290	C212R	probably damaging	Het

Other mutations in Nme8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01984:Nme8	APN	13	19688980	missense	probably damaging	1.00
IGL02272:Nme8	APN	13	19658826	missense	probably damaging	0.99
IGL02344:Nme8	APN	13	19674404	missense	possibly damaging	0.94
IGL02395:Nme8	APN	13	19677908	missense	possibly damaging	0.64
IGL02621:Nme8	APN	13	19675648	missense	probably damaging	1.00
IGL02645:Nme8	APN	13	19660585	missense	probably damaging	1.00
IGL02807:Nme8	APN	13	19675831	unclassified	probably benign
IGL03059:Nme8	APN	13	19652244	missense	possibly damaging	0.92
IGL03288:Nme8	APN	13	19696606	missense	possibly damaging	0.94
IGL03323:Nme8	APN	13	19688950	missense	probably benign	0.06
R0139:Nme8	UTSW	13	19677848	missense	probably benign	0.19
R0616:Nme8	UTSW	13	19690859	missense	probably benign	0.00
R0632:Nme8	UTSW	13	19658036	missense	probably damaging	0.96
R1233:Nme8	UTSW	13	19660512	missense	possibly damaging	0.71
R1288:Nme8	UTSW	13	19674449	missense	possibly damaging	0.87
R1305:Nme8	UTSW	13	19696907	missense	possibly damaging	0.90
R1773:Nme8	UTSW	13	19697036	start codon destroyed	probably damaging	1.00
R1942:Nme8	UTSW	13	19675808	missense	probably damaging	1.00
R1970:Nme8	UTSW	13	19652322	missense	probably damaging	1.00
R2012:Nme8	UTSW	13	19696883	missense	probably damaging	1.00
R2093:Nme8	UTSW	13	19650872	missense	probably damaging	1.00
R2392:Nme8	UTSW	13	19688943	critical splice donor site	probably null
R2436:Nme8	UTSW	13	19677859	missense	probably damaging	1.00
R2901:Nme8	UTSW	13	19675664	missense	probably benign	0.02
R2902:Nme8	UTSW	13	19675664	missense	probably benign	0.02
R4665:Nme8	UTSW	13	19674435	missense	probably damaging	1.00
R4751:Nme8	UTSW	13	19675638	critical splice donor site	probably null
R4785:Nme8	UTSW	13	19657930	missense	probably damaging	0.96
R5101:Nme8	UTSW	13	19690847	critical splice donor site	probably null
R5217:Nme8	UTSW	13	19696691	missense	probably damaging	1.00
R5251:Nme8	UTSW	13	19660625	missense	probably benign	0.33
R5356:Nme8	UTSW	13	19652299	missense	probably damaging	1.00
R5397:Nme8	UTSW	13	19694379	missense	probably damaging	1.00
R5624:Nme8	UTSW	13	19677868	missense	possibly damaging	0.94
R6679:Nme8	UTSW	13	19690970	splice site	probably null
R7111:Nme8	UTSW	13	19675647	missense	probably benign	0.06
R7185:Nme8	UTSW	13	19677883	missense	probably damaging	1.00
R7670:Nme8	UTSW	13	19658829	missense	probably benign	0.01
R7685:Nme8	UTSW	13	19650975	missense	probably benign	0.00
R8108:Nme8	UTSW	13	19650960	missense	probably benign	0.00
R8331:Nme8	UTSW	13	19658866	missense	probably damaging	1.00
R8413:Nme8	UTSW	13	19674519	missense	probably benign	0.01
R8808:Nme8	UTSW	13	19675808	missense	probably damaging	1.00
R9227:Nme8	UTSW	13	19690214	missense	probably benign
R9230:Nme8	UTSW	13	19690214	missense	probably benign
R9422:Nme8	UTSW	13	19675748	missense	probably benign	0.01
Z1088:Nme8	UTSW	13	19688957	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- CTTCGTGCTGTTAAATGCGGTC -3'
(R):5'- TCCCCAGAAAACTTGTGCATG -3'

Sequencing Primer
(F):5'- GTGTGCAATAGTTTTAACAAGCTCC -3'
(R):5'- GTGCATGCTTCTATATCGTTTGAAC -3'

Posted On

2019-05-13